Thursday, April 9, 2009

Genetic testing

I started the 13th treatment round after all on Monday even though I'm on antibiotics. The doctors said it's fine as the infection level (CRP) was low and blood values were otherwise fine.

Some time ago I asked the doctors if they could run some genetic testing on me to try and identify if it is some gene mutation that may have caused my cancer. Though this is a vastly complex area there is already knowledge of some gene mutations that will increase the risk of colon cancer.

On Wednesday I had an appointment with a doctor specialised in the area. She was very knowlegeable about colon/rectal cancer and had also studied my case well. She asked why I wanted to do this. I answered the only reason is to pass on knowledge to my family and especially our kids.

For one hour I was briefed about gene mutations, cancer and ongoing research. I should have brought either my wife or a voice recorder with me as I can't recall it all. She said I could call her any time if I had questions or wanted to know more. I answered it will probably be my wife that would call her.

About gene mutations, some are inherited and some are not. Finland is in front line on research of some of these gene mutations, HNCPP in particular. People diagnosed with HNPCC have a very high risk of developing colon cancer during their life time. The probability I would have HNCPP is less than 20% though.

There is a good system in Finland for follow-up of families in our situation. As an example, she explained our kids would be followed up once they turn 18.

The next step is that she'll order the testing of those two biopsies they have already taken of me (one from a liver tumour and one from the rectal tumour). In addition I had to go and take a blood test they will use for DNA analysis.

No comments: